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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre ; Pancza, Patrice ; Avery, Robert A. ; Berman, Yemima ; Blakeley, Jaishri ; Babovic-Vuksanovic, Dusica ; Cunha, Karin Soares ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Gutmann, David H. ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; Peltonen, Sirkku ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Tadini, Gianluca ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Gomes, Alicia ; Jordan, Justin T. ; Mautner, Victor ; Merker, Vanessa L. ; Smith, Miriam J. ; Stevenson, David ; Anten, Monique ; Aylsworth, Arthur ; Baralle, Diana ; Barbarot, Sebastien ; Barker, Fred ; Ben-Shachar, Shay ; Bergner, Amanda ; Bessis, Didier ; Blanco, Ignacio ; Cassiman, Catherine ; Ciavarelli, Patricia ; Clementi, Maurizio ; Frébourg, Thierry ; Giovannini, Marco ; Halliday, Dorothy ; Hammond, Chris ; Hanemann, C.O. ; Hanson, Helen ; Heiberg, Arvid ; Joly, Pascal ; Kalamarides, Michel ; Karajannis, Matthias ; Kroshinsky, Daniela ; Larralde, Margarita ; Lázaro, Conxi ; Le, Lu ; Link, Michael ; Listernick, Robert ; MacCollin, Mia ; Mallucci, Conor ; Moertel, Christopher ; Mueller, Amy ; Ngeow, Joanne ; Oostenbrink, Rianne ; Packer, Roger ; Papi, Laura ; Parry, Allyson ; Peltonen, Juha ; Pichard, Dominique ; Poppe, Bruce ; Rezende, Nilton ; Rodrigues, Luiz Oswaldo ; Rosser, Tena ; Ruggieri, Martino ; Serra, Eduard ; Steinke-Lange, Verena ; Stivaros, Stavros Michael ; Taylor, Amy ; Toelen, Jaan ; Tonsgard, James ; Trevisson, Eva ; Upadhyaya, Meena ; Varan, Ali ; Wilson, Meredith ; Wu, Hao ; Zadeh, Gelareh ; Huson, Susan M. ; Evans, D. Gareth ; Plotkin, Scott R.

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure

Mulchandani, Surabhi ; Bhoj, Elizabeth J. ; Luo, Minjie ; Powell-Hamilton, Nina ; Jenny, Kim ; Gripp, Karen W. ; Elbracht, Miriam ; Eggermann, Thomas ; Turner, Claire L.S. ; Temple, I. Karen ; Mackay, Deborah J.G. ; Dubbs, Holly ; Stevenson, David A. ; Slattery, Leah ; Zackai, Elaine H. ; Spinner, Nancy B. ; Krantz, Ian D. ; Conlin, Laura K.

Genetics in medicine, 2016-04, Vol.18 (4), p.309-315 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

Plotkin, Scott R. ; Messiaen, Ludwine ; Legius, Eric ; Pancza, Patrice ; Avery, Robert A. ; Blakeley, Jaishri O. ; Babovic-Vuksanovic, Dusica ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Giovannini, Marco ; Gutmann, David H. ; Hanemann, Clemens Oliver ; Kalamarides, Michel ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; MacCollin, Mia ; Papi, Laura ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Smith, Miriam J. ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Huson, Susan M. ; Wolkenstein, Pierre ; Evans, Dafydd Gareth

Genetics in medicine, 2022-09, Vol.24 (9), p.1967-1977 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E ; Stevenson, Roger E ; Skinner, Steven A ; DuPont, Barbara R ; Fletcher, Robin S ; Balci, Tugce B ; Siu, Victoria Mok ; Granadillo, Jorge L ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J ; van Haelst, Mieke M ; Mannens, Marcel M A M ; Louie, Raymond J ; Lee, Jennifer A ; Tedder, Matthew L ; Alders, Marielle

Genetics in medicine, 2021-11, Vol.23 (11), p.2228-2228 [Periódico revisado por pares]

United States: Elsevier Limited

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6
Expression of heat shock proteins and heat shock protein messenger ribonucleic acid in human prostate carcinoma in vitro and in tumors in vivo
Expression of heat shock proteins and heat shock protein messenger ribonucleic acid in human prostate carcinoma in vitro and in tumors in vivo
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Expression of heat shock proteins and heat shock protein messenger ribonucleic acid in human prostate carcinoma in vitro and in tumors in vivo

Tang, Dan ; Khaleque, Md Abdul ; Jones, Ellen L. ; Theriault, Jimmy R. ; Li, Cheng ; Hung Wong, Wing ; Stevenson, Mary Ann ; Calderwood, Stuart K.

Cell stress & chaperones, 2005-03, Vol.10 (1), p.46-58 [Periódico revisado por pares]

Netherlands: Cell Stress Society International

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